Study To Investigate Carotid atherosclerosis in carriers of LCAT gene mutations and unaffected family controls: A 3.0 Tesla Magnetic Resonance Imaging study

LCAT plays a key role in the maturation of HDL particles. Norum and Gjone first
described that LCAT gene mutations underlie familial LCAT deficiency. Familial
LCAT deficiency is characterized by HDL deficiency (5% to 10% of normal HDLc
levels).
Although LCAT has thus long been known to play an important role in HDL
metabolism, its association with atherosclerosis remains elusive. Two previous
studies in carriers of LCAT gene mutations using ultrasound intima-media
thickness (IMT) measurements have provided contradictory results. A study by
Hovingh et al. found a significantly increased ultrasound IMT in carriers of
LCAT gene mutations as compared to unaffected family controls, while Calabresi
et al. did not find a difference in IMT in a comparable case controle study
(data presented on Sessions of the International Atherosclerosis Society,
Santorini Greece 2007). Because of the rarity of LCAT gene mutations and the
limited number of carriers of LCAT gene defects, the population sizes that can
be studied and compared are small. Although ultrasound IMT measurements are a
useful tool for large population based studies, the power to detect differences
in smaller patient groups is poor. This might be an explanation for these
contradictory findings. The relation between LCAT gene mutations and
atherosclerosis therefore remains largely unclear.
Recent advances in carotid artery MRI enable the detection of differences in
artery wall dimensions in small populations with greater power.

We therefore set out to study the relationship of LCAT with atherosclerosis
using 3.0 Tesla MRI mean wall area (MWA) measurements of the carotid arteries
as a marker for atherosclerosis in a cohort of LCAT mutation carriers and
compare them to unaffected family controls.

Cross sectional matched case-control study

Study takes 3 hours per participant. No risks involved.